Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition. [PDF]
Eur J NeurolO'Keefe E, Kiernan M, Huynh W.
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Development of an improved and greener HPLC-DAD method for the determination of fecal sterols in sediment and water samples using ultrasonic-assisted derivatization with benzoyl isocyanate. [PDF]
RSC AdvEffting LM, Teixeira Tarley CR.
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Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia. [PDF]
Mol Genet Metab RepAlsaleem BM +4 more
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The Journal of biological chemistry, 2002 I L, CHAIKOFF, D D, CHAPMAN, F M, HAROLD
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Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention. [PDF]
Brain SciCamelo-Filho AE +8 more
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Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]
Int J Mol SciPachajoa H, Bonilla S, Nieva-Posso DA.
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Characterization of the brain lipidome associated with frontotemporal lobar degeneration MAPT P301S mutation. [PDF]
J Lipid ResMaroto-Juanes A +6 more
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Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman With Cervical Dystonia. [PDF]
J Mov DisordWang WS +4 more
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Boiss.: An unexploited and rich source of unsaturated fatty acids, 4-desmethylsterols and other valuable phytochemicals [PDF]
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